TTC19 [The Human Chemical-Genetic Interaction Map Project]

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======= TTC19 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: TTC19
  * **<color #00a2e8>Official Name</color>**: tetratricopeptide repeat domain 19
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=54902|54902]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q6DKK2|Q6DKK2]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=TTC19&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20TTC19|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/613814|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a protein with a tetratricopeptide repeat (TPR) domain containing several TPRs of about 34 aa each. These repeats are found in a variety of organisms including bacteria, fungi and plants, and are involved in a variety of functions including protein-protein interactions. This protein is embedded in the inner mitochondrial membrane and is involved in the formation of the mitochondrial respiratory chain III. It has also been suggested that this protein plays a role in cytokinesis. Mutations in this gene cause mitochondrial complex III deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2012]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Required for the preservation of the structural and functional integrity of mitochondrial respiratory complex III by allowing the physiological turnover of the Rieske protein UQCRFS1 (PubMed:21278747, PubMed:28673544). Involved in the clearance of UQCRFS1 N-terminal fragments, which are produced upon incorporation of UQCRFS1 into the complex III and whose presence is detrimental for its catalytic activity (PubMed:28673544). {ECO:0000269|PubMed:21278747, ECO:0000269|PubMed:28673544}.

<button type='default' size='sm' modal='Pfam_Domains'>Pfam Domains</button>
<button type='primary' size='sm' modal='GO_terms'>GO Terms</button>


<modal id='Pfam_Domains' size='lg' title='Pfam Domains'>
No Pfam Domain information is available for this gene.
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|respirasome|
|respiratory chain complex III assembly|
|mitochondrial respiratory chain complex III assembly|
|cytochrome complex assembly|
|mitotic cytokinesis|
|cytoskeleton-dependent cytokinesis|
|mitochondrial respiratory chain complex assembly|
|cytokinesis|
|midbody|
|mitochondrial inner membrane|
|mitochondrion organization|
|centrosome|
|cell division|
|mitotic cell cycle process|
|mitotic cell cycle|
|cellular protein-containing complex assembly|
|oxidation-reduction process|
|cell cycle process|
|mitochondrion|
|cell cycle|
|protein-containing complex assembly|
|protein-containing complex subunit organization|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='default' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button>
<button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button>

<modal id='Compound_Hit' size='lg' title='Compound Hit'>
^Screen^Score^
|[[:results:exp434|Vemurafenib 6.6μM R08 exp434]]|-1.93|
|[[:results:exp111|R-DABN 8μM R03 exp111]]|-1.87|
|[[:results:exp35|TRAIL 5ng/ml R00 exp35]]|-1.81|
|[[:results:exp223|Cabazitaxel 0.001μM R05 exp223]]|-1.73|
|[[:results:exp231|Epothilone-B 0.0015μM R05 exp231]]|2.25|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
No correlation found to any other genes in chemogenomics.
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 0/739
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|0/28|
|bone|0/26|
|breast|0/33|
|central nervous system|0/56|
|cervix|0/4|
|colorectal|0/17|
|esophagus|0/13|
|fibroblast|0/1|
|gastric|0/16|
|kidney|0/21|
|liver|0/20|
|lung|0/75|
|lymphocyte|0/16|
|ovary|0/26|
|pancreas|0/24|
|peripheral nervous system|0/16|
|plasma cell|0/15|
|prostate|0/1|
|skin|0/24|
|soft tissue|0/9|
|thyroid|0/2|
|upper aerodigestive|0/22|
|urinary tract|0/29|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 16100
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 6.05 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='TTC19 Expression in NALM6 Cells: 6.05'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>